A new Rare Diseases Action Plan for England has been published that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.
This builds on the first ever Rare Diseases Action Plan for England published in 2022, which has developed digital tools to put information on rare diseases at the fingertips of healthcare staff. It has also helped 1,000 new complex diagnoses for people with rare diseases to be made thanks to advances in genomic research, helping to inform appropriate clinical care for patients.
The new plan lists 13 actions that have been developed with the rare diseases community focussing on faster diagnosis, increased awareness of rare diseases among healthcare staff, better coordination of care and improved access to specialist care, treatments and drugs.
Although rare diseases are individually rare, they are collectively common, with 1 in 17 people affected by a rare disease at some point in their lives, such as spinal muscular atrophy, haemophilia A, epidermolysis bullosa or Huntington’s disease. This new plan will increase data-sharing so we can, for the first time, get a full picture of how people are tested for genetic diseases across England and help get patients a diagnosis faster.
With more than 7,000 rare diseases affecting an estimated 3.5 million people in the UK it is vital that healthcare professionals have the right training to care appropriately for their needs. The new plan will collect evidence on health inequalities faced by people living with rare diseases so they can be addressed by health services, for instance for people not living in areas where specialist centres exist.
Health Minister, Helen Whately, said: "Rare diseases are individually rare but collectively common, affecting 3.5 million people in the UK. We’ve made huge progress in the last year, making 1,000 complex new diagnoses thanks to advances in genomic research. But there is still more to do. Our Rare Diseases Action Plan will reduce health inequalities, help people participate in research and join up specialist services better for patients."
Chief Scientific Adviser, Professor Lucy Chappell, said: "The impacts of rare diseases on individuals and their families are wide-ranging. Our research plays an important underpinning role in furthering the understanding, diagnosis, treatment and care for people living with rare diseases. The action plan highlights significant advances in rare disease research supported through our funding. There is always more to do and our commitments will be supported by the recently announced funding for ground-breaking research into the NIHR Biomedical Research Centres and the Medical Research Council (MRC)-NIHR UK Rare Disease Research Platform. This research will continue to drive progress and foster collaboration to translate scientific breakthroughs into clinical advances."
Professor Sir Stephen Powis, NHS England Medical Director, said: "We’ve made great progress in securing new medicines for people with a range of rare conditions, including life-saving gene therapy, advancements in genomic testing and sequencing, made possible through the NHS Genomic Medicine Service, where we are a truly world-leading health system. As well as being an adopter of innovation today, the NHS is developing a strategic approach to prepare for the breakthroughs of tomorrow and enable rapid patient access to future tests and treatments for rare conditions."
Dr. Ellen Thomas, Deputy Chief Medical Officer at Genomics England, added: "A decade on from the launch of the ground-breaking 100,000 Genomes Project, it’s vital that we continue to harness the potential of genomics to deliver benefits in diagnosis, treatment and care for those living with rare conditions. Connecting research and clinical care and doing both at national scale is crucial to this and a great strength of the approach we are taking as a country. In 2022, thanks to this link and work carried out in the National Genomic Research Library, we returned over 1,000 new, complex diagnoses for people with rare conditions to the NHS to help inform the most appropriate clinical care.
"We must continue to build on this progress, working alongside national delivery partners across the health system and in close consultation with the rare disease community, to deliver on our shared vision to improve the lives of people living with rare conditions across the UK."
Clear, substantive progress has been made since the publication of the 2022 Rare Diseases Action Plan for the care and treatment of people with rare diseases. They include:
- improvements to newborn screening for rare diseases, laying the groundwork for families to get a definitive diagnosis as early as possible
- making over 1,000 new complex diagnoses for people with rare diseases thanks to advances in genomic research, helping to inform appropriate clinical care for patients
- the creation and rollout of a toolkit for virtual healthcare consultations to help people with complex, multi-system rare diseases access multiple specialists without needing to travel
- the launch of the Innovative Medicines Fund (IMF) by NHS England and the National Institute for Health and Care Excellence (NICE), to fast-track the most promising, cutting-edge medicines to NHS patients
- the pioneering MELODY COVID-19 study, which allowed people to participate from their own home and informed targeted treatment policies
Looking to the future, the Government is funding research and fostering collaborations to accelerate the understanding, diagnosis and therapy of rare diseases. These include the ground-breaking £12 million MRC-NIHR UK Rare Disease Research Platform and £790 million NIHR biomedical research centres, many of which include a focus on rare disease research.